NM_001267550.2(TTN):c.99239G>A (p.Gly33080Glu) AND Tibial muscular dystrophy
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000287133.5
Allele description [Variation Report for NM_001267550.2(TTN):c.99239G>A (p.Gly33080Glu)]
NM_001267550.2(TTN):c.99239G>A (p.Gly33080Glu)
Condition(s)
- Name:
- Tibial muscular dystrophy (TMD)
- Synonyms:
- Distal myopathy Markesbery-Griggs type; UDD Myopathy; Tibial muscular dystrophy, tardive; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0010870; MedGen: C1838244; Orphanet: 609; OMIM: 600334
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Mus musculus homeo box B13, mRNA (cDNA clone MGC:58938 IMAGE:6530542), complete ...
Mus musculus homeo box B13, mRNA (cDNA clone MGC:58938 IMAGE:6530542), complete cdsgi|30046895|gb|BC051087.1|Nucleotide
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Conchocarpus ucayalinus (1)
Taxonomy
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Chromosome neighbors for GEO Profiles (Select 66722818) (20)
GEO Profiles
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Clioquinol effect on yeast
Clioquinol effect on yeastAccession: GDS3751GEO DataSets
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Related DataSets for GEO Profiles (Select 66722717) (1)
GEO DataSets
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Last Updated: Jul 29, 2024